Vascular EDS is a distinct type of EDS caused by faulty collagen III. Vascular EDS can be very variable even within the same family. It is a rare condition and therefore many health professionals will not have seen someone with this diagnosis. Vascular EDS was previously known as EDS type IV. What are the main symptoms and signs of Vascular EDS?

Individuals with Vascular EDS may have the following features:

Tendency to bruise very easily because the blood vessels are more fragile.

Thin skin which makes small blood vessels visible on the upper chest and legs.

Fragile blood vessels which can lead to major complications, including rupture of blood vessels.

Risk of damage to hollow organs, such as bowel perforation or uterine rupture (where part of the womb tears).

Occasionally there may be other features present including:

Hypermobility of small joints. (i.e. fingers and toes)

Premature aging of the skin on hands and feet.

Facial features, including a thin nose and lips, large eyes, small earlobes and fine hair.

Joint contractures caused by shortening of the ligaments.

Partial collapse of the lung called a pneumothorax.

Gum problems, such as bleeding or receding gums.

Varicose veins may occur in early adult life.

Wounds may take longer to heal.

What causes Vascular EDS?

Vascular EDS is a genetic condition caused by an alteration, also known as a mutation, in a gene called COL3A1. This gene is the instruction for making collagen type III. When this gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particularly in blood vessels, hollow organs and the skin.

How is Vascular EDS inherited?

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions which make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

People diagnosed with Vascular EDS will have an alteration in one copy of the COL3A1 gene. The inheritance pattern for this is called autosomal dominant inheritance, because the altered copy of the gene is dominant over the other copy. Autosomal means it can affect, and be passed on by, both males and females.

When someone with this condition has children, they will pass on one copy of their COL3A1 gene to each child, either their altered or unaltered gene. So in each pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having Vascular EDS. Equally, there is a 50% (1 in 2) chance of a child getting the unaltered copy of the gene and not inheriting the condition.

The gene alteration can happen for the first time in an individual, so there may be no previously affected family members. How can family members find out if this is relevant to them?

If family members would like further information about the implications for them, they should talk to their GP about the possibility of being referred to their local genetics service. What advice is given to both men and women with Vascular EDS who are considering a pregnancy?

Before planning a family it is important to discuss the implications of pregnancy with your family doctor (GP) who can refer you to your local genetics department. The geneticist or genetic counsellor will discuss the options available to you. It is also useful to speak to an obstetrician (a doctor who specialises in the care of pregnant women), who has experience with Vascular EDS, before planning a pregnancy. There may be an increased risk of early rupture of membranes and premature delivery when either the mother or the father has Vascular EDS.

Is there particular advice for women with Vascular EDS who are pregnant?

Any pregnancy puts the cardiovascular system (heart and blood vessels) under exceptional pressure. There are additional risks for women with Vascular EDS in pregnancy, due to blood vessel fragility. It is essential that the obstetrician and midwives are aware of the diagnosis of Vascular EDS as soon as the pregnancy is confirmed.

We recommend starting maternity leave and resting from 30 weeks of pregnancy, or possibly earlier if recommended by the obstetrician. As pregnancy progresses pregnant women with Vascular EDS have a higher chance of blood vessel or uterine rupture. The timing of delivery of the baby will be decided by the obstetrician. A planned Caesarean delivery, in a hospital with access to specialist vascular surgery may be suggested. The baby may be born prematurely because the cervix and membranes surrounding the baby can be weak or fragile.

We know that women with Vascular EDS have an increased chance of dying during pregnancy, or in the weeks following birth. It is difficult to estimate the chance of this happening, but studies suggest it may be as high as 10% of pregnancies. Many women still choose to become pregnant, while others may choose surrogacy or adoption.

What follow up is recommended for people with Vascular EDS?

Individuals should be referred to a cardiologist to discuss the available options for heart and blood vessel monitoring and whether medication is indicated.

Blood pressure should be checked regularly by the GP. Treatment can be used to lower the blood pressure, if necessary.

Any unusual signs or symptoms should be investigated thoroughly because of the possibility of internal bleeding.

If any surgery or invasive procedures are being considered, the surgeon must be made aware of the diagnosis of Vascular EDS and should be encouraged to seek specialist advice.

Good dental hygiene with regular visits to the dentist can help to prevent teeth and gum problems.

We encourage wearing Medic Alert bracelets or pendants, and carrying a medical information card in case of emergencies.

Is there anything an individual with Vascular EDS should avoid doing?

It is recommended that people with Vascular EDS avoid contact sports, such as team games, boxing or martial arts. However, it is important to maintain a healthy lifestyle so gentle exercise, such as walking, cycling or swimming may be beneficial. Individuals with Vascular EDS should avoid sudden changes of load e.g. lifting very heavy weights, sudden changes of acceleration (sprinting), or isometric exercises such as weight training.

Strenuous household tasks involving lifting or pushing large or heavy objects should be avoided. Brass and woodwind musical instruments also involve physical exertion, so alternative instruments may be more suitable.

Classical Ehlers-Danlos Syndrome

What is Classical Ehlers-Danlos Syndrome (EDS)?

Classical EDS is a type of EDS, often caused by faulty collagen V. Classical EDS can be very variable even within the same family. It is a rare condition and therefore many health professionals will not have seen someone with this diagnosis. Classical EDS was previously known as EDS types I and II.

What are the main symptoms and signs of Classical EDS?

Individuals with Classical EDS may have the following features:

Joint hypermobility.

Loose, unstable joints that can lead to dislocations and subluxations.

Stretchy (hyperextensible) and fragile skin which can split easily.

Smooth, velvety skin that bruises easily.

Wounds can be slow to heal and leave distinctive widened scars.

Fragile and extensible tissues can also result in hernias, prolapse and cervical insufficiency.

What causes Classical EDS?

Classical EDS is a genetic condition caused by an alteration, also known as a mutation, in a gene. Some individuals with Classical EDS have an alteration in either the COL5A1 or COL5A2 genes. These genes are the instructions for making collagen type V. When either gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particularly in the skin and joints. In other individuals with Classical EDS the genetic cause for their condition is not yet known.

How is Classical EDS inherited?

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions which make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

An individual with Classical EDS will have an alteration in one copy of a particular gene (sometimes COL5A1 or COL5A2). Classical EDS runs in families following a pattern called autosomal dominant inheritance, because the altered copy of the gene is dominant over the other copy. Autosomal means it can affect, and be passed on by, both males and females. When someone with this condition has children they will pass on one copy of the gene associated with Classical EDS to their child, either the altered or unaltered copy. So in each pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having Classical EDS.

Equally, there is a 50% (1 in 2) chance of a child getting the unaltered copy of the gene and not inheriting the condition. The gene alteration can happen for the first time in an individual, so there may be no previously affected family members.

How can family members find out if this is relevant to them?

If family members would like further information about the implications for them, they should talk to their GP about the possibility of being referred to their local genetics service.

What management is recommended for people with Classical EDS?

Individuals should have an echocardiogram (ultrasound scan) of their heart. If anything unusual is found, treatment may be recommended by the heart specialist.

Careful repair of wounds may help to avoid excessive scarring. Protective clothing may help minimise damage to high risk areas of the body, such as shins. This may be particularly useful for children.

If surgery is being considered, the surgeon must be aware of the diagnosis of Classical EDS because of tissue fragility and they may wish to seek further advice.

Is there anything an individual with Classical EDS should avoid doing?

It is recommended that people with Classical EDS avoid contact sports, such as rugby, football, martial arts or boxing, to minimise the possibility of skin splitting and damage to joint ligaments. However, it is important to maintain a healthy lifestyle so gentle exercise, such as walking, cycling or swimming may be beneficial.

What advice is given to both men and women with Classical EDS who are considering a pregnancy?

Before planning a family it may be helpful to discuss the implications of pregnancy with your family doctor (GP) who can refer you to your local genetics department. The geneticist or genetic counsellor will discuss the options available to you. It is important that the obstetrician and midwives are made aware of the diagnosis of Classical EDS during a pregnancy. Additional care will be needed during delivery of the baby as women with Classical EDS have a higher risk of vaginal and perineal tearing at delivery.

There is an increased risk of early rupture of membranes and premature delivery if either parent has Classical EDS. This is because the membranes surrounding the baby can be weak or fragile.

Hypermobility Ehlers-Danlos Syndrome (HEDS)

What is hypermobility?

Hypermobility joints are joints that move further than the usual range, taking into account someone’s age, gender and ethnic background. Many individuals have one or several Hypermobility joints and factors such as bone shape and muscle tone can increase the range of movement of a joint. For some this is not associated with any difficulties. The diagnosis of HEDS is made when there are other problems associated with hypermobility.

What are the differences between Joint Hypermobility Syndrome & Hypermobility EDS (HEDS)?

There has been considerable debate about whether JHS is a distinct and separate condition from Hypermobility EDS (HEDS). Since people with hypermobility can have a wide range of features it may be that there is a group of several similar conditions. It is thought that EDS Hypermobility should be diagnosed when there are other symptoms present, such as Gastrointestinal, Autonomic and Skin related issues.

JHS is often used to describe hypermobility, chronic pain and chronic fatigue. This is not a universal opinion and is still an area of debate amongst medical professionals. There are currently no tests to separate JHS and Hypermobility EDS. Other names including EDS type III and Benign Joint Hypermobility syndrome have previously been used.

What are the Ehlers-Danlos syndromes (EDS)?

EDS is the term given to a whole collection of inherited conditions that fit into a larger group known as hereditary disorders of connective tissue. Connective tissues provide support in skin, tendons, ligaments and bones. There are several different, distinct types of EDS, but they have some features in common. These can include joint hypermobility (increased mobility of joints), stretchy skin and tissue fragility.

What are the main symptoms and signs of Hypermobility Ehlers-Danlos Syndrome?

There can be considerable variability in the condition, even within the same family. Some people have joint hypermobility but do not have any other symptoms. Others can be more severely affected. Individuals with HEDS may have the following features:

Joint hypermobility with the joints having a wider range of movement than usual.

Loose, unstable joints that can lead to dislocations and subluxations.

Mitral valve prolapse, a heart valve abnormality which is usually only mild in HEDS.

Uterine, rectal or bladder prolapse.

Urinary dysfunction.

Varicose veins.

What causes Hypermobility Ehlers-Danlos Syndrome?

The exact cause(s) of HEDS is unknown. The features of HEDS suggest that there is a problem with connective tissues and possibly collagen. The condition appears to be inherited which suggests that there is a genetic cause. It is likely that there is an alteration in a gene, or several genes, containing the instructions for making connective tissue. This results in the connective tissue being less effective.

Is there a test for Hypermobility Ehlers-Danlos Syndrome?

Currently the diagnosis of HEDS must be made on clinical features. There are no laboratory tests available to confirm the diagnosis.

How is Hypermobility Ehlers-Danlos Syndrome inherited?

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions that make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

We have not yet been able to identify a gene that causes HEDS and it is possible that there may be several different genes involved. In fact HEDS may be a group of conditions and there could be various patterns of inheritance. In some families HEDS appears to follow a pattern called autosomal dominant inheritance. This means that someone with the condition has an alteration in one copy of a particular gene. Autosomal means it can affect and be passed on by both males and females. Symptoms can be very variable even within a family, with some family members being mildly affected and others having more severe problems.

When someone with this condition has children they will pass on one copy of the gene associated with HEDS to their child, either the altered or unaltered copy. Therefore, in each pregnancy there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having HEDS. Equally there is a 50% (1 in 2) chance of a child getting the unaltered copy of the gene and not inheriting the condition.

The gene alteration can happen for the first time in an individual, so there may be no previously affected family members. However this pattern of inheritance may not apply to all families, as the exact cause of HEDS is still unknown.

How can family members find out if this is relevant to them?

If family members would like further information about the implications for them, they should talk to their GP about the possibility of being referred to their local genetics service.

What management is recommended for people with Hypermobility Ehlers-Danlos Syndrome?

Regular gentle exercise, such as walking, cycling or swimming is encouraged to keep joints mobilised and to build up muscle tone around the joints to help stabilise them. Pilates can be very beneficial in helping maintain core stability and to develop good posture. It is particularly important to look after Hypermobility joints to help prevent injury. Contact sports increase the risk of injury and should be avoided. A physiotherapist can help you to develop appropriate exercises which can be carried out at home and give advice on other suitable activities.

Maintaining a healthy weight by sensible eating and appropriate exercise will help to avoid additional stress on the joints

Appropriate follow up is dependant on individual needs. Some people may benefit from referral to medical specialities such as: pain management, rheumatology, physiotherapy or occupational therapy.

Individuals with HEDS may require an echocardiogram (ultrasound scan) of their heart to check the heart valves.

Are there any recommendations for women with Hypermobility Ehlers-Danlos Syndrome who are considering a pregnancy?

HEDS is not usually associated with serious complications in pregnancy. We would suggest that women with HEDS inform their obstetrician (a doctor who specialises in the care of pregnant women) of the diagnosis.

There are a few points to consider for pregnant women with HEDS. Joint hypermobility tends to increase during pregnancy, due to the female hormones produced, and this may result in further instability and joint pain. There may be an increased chance of early rupture of the membranes (waters breaking), a rapid labour, or the baby being a breech presentation (feet/bottom first at delivery). Postnatal exercises to strengthen the pelvic floor are particularly important for women with HEDS.

Kyphoscoliotic Ehlers-Danlos Syndrome Information for patients

What is Kyphoscoliotic EDS?

Kyphoscoliotic EDS is a type of EDS sometimes caused by abnormal production of the lysyl hydroxylase enzyme. The enzyme’s normal role is to help form structures, called cross-links, between collagen fibres. Faulty enzyme leads to unstable cross-links which weakens connective tissue and causes the signs and symptoms of this condition. It is a very rare condition and therefore many health professionals will not have seen someone with this diagnosis. Kyphoscoliotic EDS was previously known as EDS type VIA. A similar clinical picture in individuals who do not have abnormal lysyl hydroxylase has previously been described as EDS type VIB.

What are the main signs and symptoms of Kyphoscoliotic EDS?

Individuals with Kyphoscoliotic EDS may have the following features:

Loose, unstable joints that frequently lead to dislocations.

Weak muscle tone from childhood, which may cause delay in sitting and walking.

Curvature of the spine, sometimes starting in early childhood which often increases in severity in adolescence.

Difficulty with walking if symptoms progress.

Fragile eyeballs which can easily be damaged.

Unusual shape or size of the clear, front part of the eye (cornea).

Soft velvety skin which is stretchy, bruises easily and scars.

Occasionally there can be other features present including:

Fragile arteries which can lead to complications.

Tall stature with long limbs, fingers and toes.

Osteoporosis (weakened bones).

Clubfoot, apparent at birth.

What causes Kyphoscoliotic EDS?

Kyphoscoliotic EDS is a genetic condition caused by having an alteration, also known as a mutation, in a gene called PLOD1. This gene is the instruction for making the enzyme lysyl hydroxylase 1. When this gene is altered it reduces or stops the activity of the enzyme and affects cross-linking between collagen fibres which weakens the connective tissues.

How is the diagnosis confirmed?

Diagnosis of Kyphoscoliotic EDS is normally made on the basis of an individual’s signs and symptoms. Collagen cross-links can be analysed in a urine sample; if the result is abnormal, a blood sample can be tested for alterations in the PLOD1 gene.

How is Kyphoscoliotic EDS inherited?

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions which make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

An individual with Kyphoscoliotic EDS will have an alteration on both copies of the PLOD1 gene. Kyphoscoliotic EDS runs in families following a pattern called autosomal recessive inheritance. Autosomal means it can affect, and be passed on by, both males and females. Recessive means that the individual will have inherited one altered copy of the gene from each parent. Therefore a parent of someone with Kyphoscoliotic EDS has one normal copy of the gene and one altered copy and is known as a ‘carrier’. They may or may not have mild signs or symptoms of hypermobility.

When two carriers of Kyphoscoliotic EDS have a child together, in any pregnancy they would have a:

1 in 4 chance of both passing the altered gene to their child who would then have Kyphoscoliotic EDS.

1 in 2 chance of one parent passing on their altered gene and the other parent passing on their unaltered gene. The child would be a carrier of Kyphoscoliotic EDS, like their parents.

1 in 4 chance of both parents passing on their normal (unaltered) copy of the gene.

In this case the child will be neither a carrier nor affected by Kyphoscoliotic EDS. Individuals with Kyphoscoliotic EDS will pass on one copy of their altered gene to each child and, unless their partner is also a carrier or affected by Kyphoscoliotic EDS, every child will have one normal copy of the gene and one altered copy. The child will therefore be a carrier who may, or may not have mild signs and symptoms of hypermobility.Partners of individuals with Kyphoscoliotic EDS may wish to be referred for genetic counselling prior to a pregnancy to discuss the option of carrier testing.

How can family members find out if this is relevant to them?

If family members would like further information about the implications for themselves, they should talk to their GP about the possibility of being referred to their local genetics service.

Is there anything an individual with Kyphoscoliotic EDS should avoid doing?

People with this type of EDS may be restricted in doing various activities because of the way the condition affects them. It is recommended that people with Kyphoscoliotic EDS avoid contact sports, such as rugby, football, boxing or martial arts. However, it is important to maintain a healthy lifestyle so gentle exercise, such as walking, cycling or swimming may be beneficial.

Individuals with Kyphoscoliotic EDS should avoid sudden changes of load e.g. lifting very heavy weights, sudden changes of acceleration (sprinting), or isometric exercises such as weight training. Strenuous household tasks involving lifting or pushing large or heavy objects should be avoided. Brass and woodwind musical instruments also involve physical exertion, so alternative instruments may be more suitable. Eye protection may be used to avoid accidental damage, for example if gardening.

What follow up is recommended for people with Kyphoscoliotic EDS?

Spinal curvature should be managed by a specialist spinal orthopaedic surgeon.

Children without spinal curvature should be checked for signs of this developing during adolescence.

If surgery is being considered, the surgeon must be aware of the diagnosis of Kyphoscoliotic EDS because of tissue fragility and they should be encouraged to seek specialist advice.

Individuals should have an echocardiogram (ultrasound scan) of their heart to check the aorta (the main artery leading from the heart) every 5 years. If anything unusual is found, treatment and more frequent scans may be recommended by the heart specialist.

Blood pressure should be checked regularly by the GP. If necessary, treatment can be used to lower the blood pressure.

Good dental hygiene with regular visits to the dentist can help to prevent teeth and gum problems.

Any unusual signs or symptoms should be investigated thoroughly because of the possibility of internal bleeding.

We encourage wearing Medic Alert bracelets or pendants, and carrying a medical information card in case of emergencies.

What advice is given to both men and women with Kyphoscoliotic EDS who areconsidering a pregnancy?

Before planning a family it is important to discuss the implications of pregnancy with your family doctor (GP) who can refer you to your local genetics department. The geneticist or genetic counsellor will discuss the options available to you.

It is important that the obstetrician (a doctor who specialises in the care of pregnant women) and midwives involved, are aware of the diagnosis of Kyphoscoliotic EDS during the pregnancy. As Kyphoscoliotic EDS is very rare, little is known about the possible effect it could have for the mother or the baby during pregnancy and labour. It may be advisable to avoid prolonged labour. There is an increased chance of premature rupture of the membranes if the baby has Kyphoscoliotic EDS.

Tenascin-X deficient Ehlers-Danlos Syndrome Information for patients

What is Ehlers-Danlos syndrome (EDS)?

EDS is a collection of inherited conditions that fit into a larger group known as connective tissue disorders. Connective tissues provide support in skin, tendons, ligaments and bones.There are different types of EDS, but they can have features in common. These can include joint hypermobility (increased mobility of joints), stretchy skin and tissue fragility. The fragile skin and unstable joints often found in EDS are the result of faulty collagen.

Collagen is a protein in connective tissue which acts as a ‘glue’ in the body,adding strength and elasticity. There are many different kinds including collagens types I, III and V. There are also other proteins that interact with collagen. The type of EDS depends on which collagen or interacting protein is involved.

What is Tenascin X?

Tenascin X is a protein that binds together collagen. Tenascin X deficient EDS is a condition with features that can look similar to Classical EDS without the characteristic scarring. Tenascin X deficient EDS is a rare condition and testing has only recently become available in the UK. Therefore there is limited information available and many health professionals will not have seen someone with this diagnosis.

What are the main symptoms and signs of Tenascin X deficient EDS?

Individuals with Tenascin X deficient EDS have the following features:

Hyperelastic skin

Hypermobility joints, that may subluxate or dislocate

Easy Bruising

Normal Scarring.

What causes Tenascin X deficient EDS?

Tenascin X deficient EDS is caused by alterations, also known as mutations, in the TNXB gene. This gene is the instruction for making the protein Tenascin X. The deficiency of Tenascin X causes changes to the connective tissues resulting in the clinical features seen in this condition.

How is Tenascin X deficient EDS inherited?

As well as the lack of scarring, another of the main differences between Tenascin X deficient EDS and Classical EDS is the inheritance pattern. Tenascin X deficient EDS is inherited in an autosomal recessive pattern, which means that to be affected someone must have an alteration to both copies of the TNXB gene. Someone with only one alteration is known as a carrier of Tenascin X deficient EDS and some carriers may have mild signs or symptoms of hypermobility.

Genetics

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions which make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

Autosomal recessive inheritance

Autosomal means it can affect, and be passed on by, both males and females. Recessive means that both copies of the gene pair have an alteration. Usually the individual will have inherited one altered copy of the gene from each parent. Therefore a parent of someone with Tenascin X deficient EDS, has one normal copy of the gene and one altered copy and is known as a ‘carrier’. Carriers may experience hypermobility and some associated problems, but don’t have the easy bruising that characterizes Tenascin X deficient EDS.

When two carriers of Tenascin X deficient EDS have a child together, in any pregnancy they would have a:

1 in 4 chance of both passing the altered gene to their child who would then have Tenascin X deficient EDS.

1 in 2 chance of one parent passing on their altered gene and the other parent passing on their unaltered gene. The child would be a carrier of Tenascin X deficient EDS, like their parents.

1 in 4 chance of both parents passing on their normal (unaltered) copy of the gene. In this case the child will be neither a carrier nor affected by Tenascin X deficient EDS.

Individuals with Tenascin X deficient EDS will pass on one copy of their altered gene to each child and, unless their partner is also a carrier or affected by Tenascin X deficient EDS, every child will have one normal copy of the gene and one altered copy. The child will therefore be a carrier who may, or may not have mild signs and symptoms of hypermobility.

What follow up is recommended for people with Tenascin X deficient EDS?

Evidence on management of Tenascin X deficient EDS is limited, on the basis of current information we would suggest:

Individuals should have an echocardiogram (ultrasound scan) of their heart to check the heart valves. If anything unusual is found, treatment may be recommended by the heart specialist.

If surgery is being considered, the surgeon must be aware of the diagnosis of Tenascin X deficient EDS and they may wish to seek further advice.

A baseline pulmonary function test is suggested in adulthood.

It is thought that individuals with Tenascin X deficient EDS may be at increased risk of diverticulitis of the colon. Abdominal pain or changes in bowel habit should be reported to the GP.

Is there anything an individual with Tenascin X deficient EDS should avoid doing?

It is always important to maintain a healthy lifestyle and for individuals with Tenascin X deficient EDS it is specifically recommended to avoid smoking.

How can family members find out if this is relevant to them?

If family members would like further information about the implications for themselves, they should talk to their GP about the possibility of being referred to their local genetics service for genetic counseling.

Arthrochalasia Ehlers-Danlos Syndrome

Inheritance

Autosomal dominant

Major Diagnostic criteria

Severe generalised joint hypermobility with recurrent subluxations

Congenital bilateral hip dislocation.

Minor Diagnostic criteria

Skin hyper-extensibility

Tissue fragility, including atrophic scars

Easy bruising

Muscle hypotania

Kyphoscoliosis

Radiologically mild osteopenia

Special Comments

Congenital hip dislocation has been present in all biochemically proven individuals.

Short statue is not a manifestation, unless it is a complication of severe kyphoscoliosis and / or hip dislocation.

Larsen syndrome should be considered in the differential diagnosis.

For management see (Steinmann et al. 1993).

Dermatosparaxis Ehlers-Danlos Syndrome

Inheritance

Autosomal recessive

Major Diagnostic criteria

Severe skin fragility

Sagging, redundant skin

Minor Diagnostic criteria

Soft doughy skin texture

Easy bruising

Premature rupture of fetal membranes

Large hernias (unbilical, inguinal).

Special Comments

Skin fragility and bruising are substantial. Wound healing is not impaired and the scars are not atrophic.

Redundancy of the facial skin results in an appearance resembling cutis laxa; however, bruising and skin fragility are not manifestations of cutis laxa.

The name was taken from a similar phenotype and biochemical defect previously recognised in cattle, sheep and other animals.

The number of patients reported is small and the phenotypic spectrum might expand.